Canonical Allele Identifier: CA732579131
Gene: ACTA1 HGNC NCBI

Linked Data

dbSNP Id: rs148828901
gnomAD v4: 1-229431440-GC-G
MyVariant Identifiers: chr1:g.229567188del (hg19) chr1:g.229431441del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431447del , CM000663.2:g.229431447del GRCh38
NC_000001.10:g.229567194del , CM000663.1:g.229567194del GRCh37
NC_000001.9:g.227633817del NCBI36
NG_006672.1:g.7656del , LRG_429:g.7656del

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.*58del ENSP00000355644.4:n.*58del
ENST00000684723.1:c.*58del ENSP00000508084.1:n.*58del
ENST00000366683.3:c.*58del ENSP00000355644.3:n.*58del
ENST00000366684.7:c.*58del MANE Select ENSP00000355645.3:n.*58del
NM_001100.3:c.*58del , LRG_429t1:c.*58del NP_001091.1:n.*58del
NM_001100.4:c.*58del MANE Select NP_001091.1:n.*58del
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